A new mutation in the regulatory domain of the myophosphorylase gene affecting protein dimer contact.
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Gamez J, Fernandez R, Bruno C, Andreu AL, Cervera C, Navarro C, Schwartz S, Dimauro S
A new mutation in the regulatory domain of the myophosphorylase gene affecting protein dimer contact.
Muscle Nerve. 1999 Aug;22(8):1136-8.
- PubMed ID
- 10417800 [ View in PubMed]
- Abstract
We have identified a novel missense mutation in the myophosphorylase gene in a Spanish patient with McArdle's disease. The patient was homozygous for a T-to-C transition at codon 115 (L115P) in exon 3, which changed an encoded leucine (CUG) to a proline (CCG). This is the first mutation to be described in exon 3 and in a protein domain related to dimer contact. These data further emphasize the importance of private mutations in McArdle's disease, some of which are associated with specific ethnic groups.